DTNA, dystrobrevin alpha, 1837

N. diseases: 35; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894654
rs104894654 		0.925 0.080 18 34794250 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C1858725
Disease: NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 1 2001 2001
dbSNP: rs1480432
rs1480432 		18 34727166 intron variant T/G snv 0.38
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1842413
rs1842413 		18 34770842 intron variant A/G snv 0.82
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs79495154
rs79495154 		18 34771732 intron variant A/G snv 0.10
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1057518968
rs1057518968 		1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518968
rs1057518968 		1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs775975702
rs775975702 		0.925 0.120 18 34766039 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1858725
Disease: NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs104894654
rs104894654 		0.925 0.080 18 34794250 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1228479839
rs1228479839 		1.000 0.040 18 34879685 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1487690122
rs1487690122 		1.000 0.040 18 34794051 missense variant A/G snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs764018132
rs764018132 		1.000 0.040 18 34794168 missense variant A/G snv 4.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs775975702
rs775975702 		0.925 0.120 18 34766039 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017